PDS5B, PDS5 cohesin associated factor B, 23047

N. diseases: 26; N. variants: 8
Disease: Cornelia De Lange Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1344806616
rs1344806616 		1.000 0.080 13 32770371 missense variant G/A snv 7.0E-06
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009